Incidental Mutation 'IGL01665:Ints7'
ID |
103300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
IGL01665
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 191345331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000193569]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045450
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193569
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
Adipor2 |
A |
T |
6: 119,338,887 (GRCm39) |
L122H |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
Ccpg1 |
T |
A |
9: 72,913,159 (GRCm39) |
F232I |
probably damaging |
Het |
Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
Cfap70 |
G |
A |
14: 20,453,186 (GRCm39) |
T897M |
probably damaging |
Het |
Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
Oit3 |
T |
A |
10: 59,274,731 (GRCm39) |
D23V |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmem167 |
T |
A |
13: 90,246,504 (GRCm39) |
S9R |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
probably benign |
Het |
|
Other mutations in Ints7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Ints7
|
APN |
1 |
191,328,276 (GRCm39) |
splice site |
probably null |
|
IGL01285:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01289:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01572:Ints7
|
APN |
1 |
191,347,905 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02059:Ints7
|
APN |
1 |
191,347,872 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02684:Ints7
|
APN |
1 |
191,345,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02686:Ints7
|
APN |
1 |
191,318,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Ints7
|
APN |
1 |
191,351,853 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03119:Ints7
|
APN |
1 |
191,342,477 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03162:Ints7
|
APN |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4810001:Ints7
|
UTSW |
1 |
191,328,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R0294:Ints7
|
UTSW |
1 |
191,344,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0479:Ints7
|
UTSW |
1 |
191,346,666 (GRCm39) |
splice site |
probably null |
|
R0698:Ints7
|
UTSW |
1 |
191,326,576 (GRCm39) |
missense |
probably damaging |
0.97 |
R1420:Ints7
|
UTSW |
1 |
191,345,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1680:Ints7
|
UTSW |
1 |
191,353,274 (GRCm39) |
splice site |
probably null |
|
R1781:Ints7
|
UTSW |
1 |
191,328,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2141:Ints7
|
UTSW |
1 |
191,336,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2291:Ints7
|
UTSW |
1 |
191,338,315 (GRCm39) |
splice site |
probably null |
|
R4718:Ints7
|
UTSW |
1 |
191,315,389 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4741:Ints7
|
UTSW |
1 |
191,351,747 (GRCm39) |
missense |
probably benign |
0.29 |
R4797:Ints7
|
UTSW |
1 |
191,329,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Ints7
|
UTSW |
1 |
191,326,542 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4826:Ints7
|
UTSW |
1 |
191,344,018 (GRCm39) |
missense |
probably damaging |
0.97 |
R4870:Ints7
|
UTSW |
1 |
191,328,443 (GRCm39) |
missense |
probably damaging |
0.97 |
R5169:Ints7
|
UTSW |
1 |
191,345,202 (GRCm39) |
missense |
probably benign |
0.00 |
R5281:Ints7
|
UTSW |
1 |
191,347,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5694:Ints7
|
UTSW |
1 |
191,318,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Ints7
|
UTSW |
1 |
191,308,005 (GRCm39) |
missense |
probably benign |
0.00 |
R6048:Ints7
|
UTSW |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
R6341:Ints7
|
UTSW |
1 |
191,345,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Ints7
|
UTSW |
1 |
191,334,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7037:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
R7163:Ints7
|
UTSW |
1 |
191,349,949 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7603:Ints7
|
UTSW |
1 |
191,328,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7801:Ints7
|
UTSW |
1 |
191,347,859 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7899:Ints7
|
UTSW |
1 |
191,353,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R8034:Ints7
|
UTSW |
1 |
191,345,183 (GRCm39) |
frame shift |
probably null |
|
R8034:Ints7
|
UTSW |
1 |
191,345,180 (GRCm39) |
frame shift |
probably null |
|
R8231:Ints7
|
UTSW |
1 |
191,328,465 (GRCm39) |
nonsense |
probably null |
|
R8251:Ints7
|
UTSW |
1 |
191,353,545 (GRCm39) |
missense |
unknown |
|
R8520:Ints7
|
UTSW |
1 |
191,314,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
R9198:Ints7
|
UTSW |
1 |
191,351,872 (GRCm39) |
missense |
probably benign |
0.42 |
R9382:Ints7
|
UTSW |
1 |
191,351,793 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ints7
|
UTSW |
1 |
191,342,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2014-01-21 |